Welcome to Yale Cancer Center Answers with Dr. Ed Chu and
Dr. Francine Foss, I am Bruce Barber. Dr. Chu is Deputy
Director and Chief of Medical Oncology at Yale Cancer Center and
Dr. Foss is a Professor of Medical Oncology and Dermatology
specializing in the treatment of lymphomas. If you would like
to join the conversation, you can contact the doctors
directly. The address is canceranswers@yale.edu
andthe phone number is 1888-234-4YCC. This evening
I will be sitting in forEd and Francine and I am joined
by Dr. Ellen Matloff. Ellen is Director of Cancer Genetic
Counseling at Yale Cancer Center.

Barber
Ellen, I think a great place to start is how you became interested
in genetic counseling.

Matloff
I had never even heard of genetic counseling as a career until I
was a sophomore in college and taking a genetics course as a
prerequisite for a biology premed major. We had a genetic counselor
who came and spoke to the class and when she described the
combination of medicine and science with counseling, psychology, it
seemed like such a great blend to me. Even back then when I
graduated from college it really seemed like genetics was the
future, and so that's how I started researching it from there.

Barber
I had not thought about it in those terms, but you are exactly
right, you do have amazing science that is going on right now but
you need the ability to interact with human beings, it is not just
in the lab.

Matloff
I think that's what makes genetic counselors unique to be honest
with you, is that we do have to do the counseling psychology piece
as well as interpret very complicated laboratory information. Also
there is a medicine side of it that comes into play and even most
physicians don't have a background in counseling psychology, and so
the fact that we have all of these elements really makes it a
unique career.

Barber
When a layperson, such as me, hears the term genetic counseling,
there would maybe be a tendency to go blank, like what is it, and
probably a lot of people don't think about it until they are in a
position where they have been told they need it. So for someone
such as me, what does the field really entail?

Matloff
It is funny because when people here genetic counseling, I have
heard now all sorts of permeations on what they thinks it is.
One of my favorites is, well I am not old, why would I need
geriatric counseling? Actually it is genetic counseling and a lot
of people think you are a social worker, you are a psychologist,
no, genetic counseling is really a process by which graduate level
professionals take an entire family history and we usually take a
four generation category and we interpret and do a risk assessment
to figure out if the disease in the family appears to be
hereditary, or appears to be sporadic. If it is hereditary we are
the people to decide which genes are most likely mutated

Barber
That's interesting when you talk about the fact that you are
looking back generations, so again, it is not just science, it is
not just reading a chart, and it is not just knowing the latest
science, but it obviously also involves some detective work.

Matloff
It is a lot of detective work and I would say that one of the
greatest changes in genetic counseling since I entered the field is
that no one knew what I was talking about, they didn't even know
what genetic testing was, and this really was not that long ago
that people just gave blanks stares and now genetic testing is much
better known, which is a good thing, but the hazard is that a lot
of these testing companies are marketing either directly to the
public or directly to physicians not trained in genetic science
saying "Hey, this is a piece of cake, order one for yourself."
People don't realize this is not a pregnancy test that you are
getting a yes or a no. It is quite complicated.

Barber
I would imagine that if you don't know a lot about it you would
think, well if this is available and I have the money why not just
get tested?

Matloff
Sure, and in fact, I don't know if you saw this but last year the
New York Times did this article about these cocktail parties in
Manhattan that you could go to and the entertainment for the
evening was spitting in a vile and having your DNA analyzed so that
you could see what track you have and what diseases you are risk
for, almost like having a tarot card reader at a party for
entertainment, but this is really not a tarot card reading.

Barber
No, this is not a Botox party as what it sounds like.

Matloff
It is really not.

Barber
Who do you usually end up seeing?

Matloff
We see a variety of people. Because I work in cancer genetics
sometimes we see a person who already has cancer. They have
been diagnosed on Monday, today is Wednesday, and they have learned
that genetic testing could help guide their management and help
them pick which surgery to have and whether or not they should have
radiation. So we see those patients that are newly diagnosed.
We also see patients who have never had cancer but have a strong
family history and are concerned about getting cancer. We
also see people that have been treated for cancer, but they are
worried about their children, their grandchildren, their siblings
and they want to do

something to either prevent them from getting a second cancer,
or to help their family members.

Barber
We are speaking with Ellen Matloff Director of Cancer Genetic
Counseling at Yale Cancer Center. I am also intrigued, everybody in
their job has favorite stories, a great day of work, a great
outcome. What springs to mind for you recently that was just like
"Wow this is really why I love doing this."

Matloff
My favorite type of day, and it does not happen very often, but my
favorite type of days is when we see a family with a known genetic
mutation that causes cancer and we test someone and they don't
carry the mutation. One story that comes to mind was I had a
patient who I had been seeing for years, she had two breast
cancers, she tested positive for a mutation and her biggest concern
was her daughter who at the time was like 16 and was really too
young for testing. So we corresponded over the years and kept in
touch and when her daughter was about 22 they came in together and
her daughter, comes from a different generation, she has not been
through cancer, she is the daughter, she is not the mother, so her
level of stress about the whole thing was quite a bit lower than
her mom and she had testing and she was a true negative. She
didn't carry her mom's mutation and they came in for those results
and I gave them to her in person and certainly she was happy and
she had a big smile on her face, but when she walked out of the
door her mom stayed behind for just a moment and she gave me a hug
that could have broken my back and just sobbed for like three
seconds; her daughter never saw it. I could feel in that hug the
relief that her daughter would not have to go through what she had
been going through now for about 15 years, it was just amazing. I
felt oh if only this could happen every day.

Barber
The other side of that, and that's a wonderful story, but
obviously part of your job is delivering difficult news and working
with people you oftentimes going through one of the most difficult
periods in their life.

Matloff
Yes.

Barber
How do you do that?

Matloff
It is challenging not only for the patient but for the care
providers, because so many of our patients are diagnosed with
cancers at young ages or they are diagnosed with many
cancers. I saw a 76-year-old gentleman recently on his
seventh primary cancer. This poor guy has been through hell
and although the work is challenging, I think to be able to deliver
the information in a sensitive, warm, caring, manner and to give
them accurate information that could really help them prevent
developing another cancer, that's how we get through it.
Also, as a team, and this is an unusual model, we have a counseling
meeting once a week where we vent all this stuff and we even
have

Barber
This got to be so stressful and so difficult because I would
imagine you get so involved with your patients and then you have to
deliver that tough news.

Matloff
People may be surprised to hear this, but I can't tell you how
many times I have stared at the fax machine as a result is coming
though and you can see the patient's name come though first and you
are standing there like God please let this be whatever and I am
sure people would be surprised to hear that, but we really care
about these people and we are just as hopeful that we will get good
news.

Barber
& If someone is referred to you to get cancer genetic testing,
what should they expect?

Matloff
They should expect to come in and have us ask them all about their
personal history and their family history and the more information
they bring us the better our risk assessment and we have patients
all the time who will say things like, I do not know I am not close
with my family, I don't have a lot of information, but in this day
of the Internet, and Facebook, and Goggle, you will be amazed how
many relatives you can track down if you really try. We have had
patients contact family members they have not spoken to in 30 years
and the family member says, you know what, since we last spoke I
had breast cancer, I had genetic testing, and I carry this
mutation, so really even half an hour of detailed detective work,
as you mentioned, can really give us so much more information.

Barber
Are people getting better about maintaining their health history,
or is that still an area where you would love to see some
improvement?

Matloff
There is a lot of room for improvement there. Ironically,
people that are into genealogies do this really as a pastime and
there are genealogy groups and genealogy web sites, but when you
get the genealogy it will have peoples full names, their dates of
birth, if they got married, who they got married too, and date of
death, but it would not often say what they died from, or did they
have cancer, how old were they at diagnosis, and really by just
adding a little bit more information it could go from an
interesting hobby into an essential piece of family history
information that you could pass down to generations and it could
save the lives of your future family members.

Barber
How much of cancer is hereditary?

Matloff
We believe that it is the minority, that about 10% of cancer is
passed down in families, but I will

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tell you that as genetic research unfolds on a daily basis we are
learning that more and more things are hereditary, for example,
everyone knows that if you use tobacco you increase your risk for
these 10 different cancers. However, if you carry a genetic
susceptibility to tobacco, you may be the one who develops an early
onset head and neck caner or an early onset lung cancer, so even
the things that are clearly environmental may also have a thread of
hereditary in them.

Barber
& What do you think about the future of genetic counseling? I
have read about how now they have started to, and correct me if I
am wrong, identify some of these differences that will put you at a
higher risk. What role do you think more genetic counseling
will have going forward?

Matloff
I am not sure because we are never going to say to someone, you do
not have the mutation for tobacco, so please smoke a pack of
Marlboros a day. We are never going to say that. We are
never going to say, you don't seem to be at high risk for melanoma,
so please jump in a tanning bed. Because even baseline these things
do harm to everyone and I don't know if it may influence treatment
at some point because that's really where the field of cancer is
going. Instead of giving every single patient with colon cancer the
exact same treatment, we are doing genetic testing on these
patient's either on their tumor or even on their blood and saying
based on your genetic profile we can tell that you will respond to
this therapy most effectively, personalized medicine, that's where
it's headed.

Barber
When we come back let's talk a little more about the science and
what is going on. We are speaking with Ellen Matloff Director of
Cancer Genetic Counseling at Yale Cancer
Center.

Barber
& We promised we would get into the science a little bit but I
want to just back up briefly because

Matloff
Now, consumers can either go online and order their own genetic
testing, and there were even some kits that were available in
Walgreens, which have since been pulled at least
for the time being, in which people could just with a simple saliva
sample send their DNA for testing and the results would come back
and you are left to interpret that yourself. When the field
of cancer genetic counseling really launched in the late 1990s, our
greatest concern was insurance discrimination, that my goodness, if
you find out you carry a mutation you are never going to get a job,
your health insurance will drop you, bad things will happen, and
there are laws in place, both locally and nationally that protect
people and we have 1400 families, we have only had two people who
have ever reported any type of genetic discrimination and even
those claims are still washing out. The greatest risk of
genetic testing we have learned over the years has been the risk
that your genetic test will be misinterpreted, and we are seeing
this again and again that well-meaning providers who are trying to
do a service for their patient's and have been told by these
companies that you can order this yourself, they are ordering it,
but sometimes ordering the wrong test or ordering the right test
but misinterpreting the results. We have had women both
locally and nationally who had prophylactic mastectomies only to
learn later that they did not carry a mutation, women who have had
their ovaries removed preventively and later learned that their
information was misinterpreted, and this has become such a
hot-button issue that some collaborators of mine across the country
have written a paper collecting these cases and we are going to be
publishing those data in August in the journal called Connecticut
Medicine, so I guess what I would say to people, I understand that
it is convenient to get on the internet and order you own genetic
testing and it sounds like fun, but if you care enough to order it
at all and care enough to have it interpreted correctly, go to a
genetic counselor who is certified.

Barber
& What I find, as the spouse of a physician, and having watched
her go through medical school and now practice medicine, so much of
it is an art as it is science.

Matloff
It is, and keep in mind also that these medical schools, and I
teach here at Yale which is a great medical school one of the best
in the country, but you would not believe how much stuff is packed
into these kids schedules, and so genetics is only a tiny part of
what they learn and you cannot even expect the best minds in the
country to be able to pick up an entire field after a few hours of
training in a specific field, that is why we have specialties.

Barber
And it is so new, I am mean when you say just in what, the late
1990s that the field emerged, so this is brand new stuff.

Matloff
It is brand new, in fact, one of my first responsibilities when I
came to Yale was to write a book chapter on cancer genetic
counseling, one did not exist, and I remember piecing together
stuff because it just did not exist, we were making it us as we
went along, and as these genes were discovered and as we began
doing testing.

Barber
It does seem like now, getting into the science piece of this, I
do not know what impact this had, but since mapping the human
genome it seems as if, to this lay person, the amount of science
that is emerging is just amazing.

Matloff
It is breathtaking. It is all I can do to keep up on the
literature in cancer genetics, now that's cancer genetics, that is
not prenatal genetics, cardiac genetics, the genetics of neurology.
There is no way that if you came to me for genetic
counseling, quite frankly, that I could counsel you on anything but
cancer genetics, and this is my job.

Barber
So one of the things in your job description has to be balancing
your clinical obligations with whatever publishing you are doing
and you mentioned the chapter and staying up on the literature.

Matloff
It's crazy. I will say there are some good things about
that. It keeps you fresh, you are always learning, you are
never bored, but when faced with things like, I just had a baby;
can I take 5 years off and return to the field? It is a little
daunting because in five years, the field will be completely
different.

Barber
What are the things that the science is shouting at us right
now?

Matloff
The big news in science since the human genome was sequenced is we
knew about all of these genes, but the testing was so expensive
that no one was going to get tested for all of the genes in your
body. Since that period of time, the technology has gotten so
much better and so much cheaper in such a short period of time
that, believe it or not, to sequence all of your genes, right now
it is estimated to cost in some labs between five and six thousand
dollars. That's especially impressive when you consider that
right now when I order just BRCA1 and BRCA2 testing, the breast
ovarian cancer genes, just those two genes cost four thousand
dollars for all the testing. So, it gives you a sense of Wow,
two genes for four thousand, I might as well have the whole genome
for five thousand, that is amazing. The dilemma is that
instead of getting a one-page report people are going to get a
report that looks like a small phonebook and interpreting those
data is going to be incredibly challenging, even for those of us
who know what we are talking about.

Barber
If you had unlimited resources, unlimited financial resources, and
you could just go out and do any kind of research or any clinical
work, anything you wanted to do, what would that be?

Matloff
Well first of all, I think I would train more people. We
have a dedicated summer fellowship here for 3 months each year and
we do a national search and picked the cream of the crop to come
study here for 3 months. I would like to do that and actually
recruit more students each year to be fellows to really learn about
the field of cancer genetics, but I would also like to target
certain at risk audiences. For example, we know that there
are three common Jewish mutations that really increase the risk of
breast and ovarian cancer. One in 43 American Jews carry one
of those mutations and the majority of those men and women do not
know they carry them. I would love to hire more genetic
counselors and to target synagogues, Hadassah groups, because there
are a lot of Jewish organizations that are very well known and very
well run. I would love to go there and offer them as a group
educational sessions and even genetic counseling and testing so
that these men and women would not die of breast, ovarian, or
pancreatic cancers for no reason.

Barber
Now let us talk about when you get into that thing where you know
you have got a family history, you have come to genetic counseling,
what does that all mean going forward? You have got some tough
decisions, what is your process for figuring that out?

Matloff
Each family is so unique. You would be amazed at the
different scenarios. Some people say, well I am not talking to this
sister and we have not seen this relative in 20 years and I do not
want to bother this cousin because he is going through a divorce,
there are so many interesting family dynamics going on, but what we
basically do is we take a look at the family history, we determine
the risk, we determine if testing is appropriate, whom in the
family would be best to test first in terms of accuracy, and then
we take it from there.

Barber
Spend a little time talking about what your option areas with
respect to treatment these days with some of these scientific
advances that have taken place.

Matloff
I mentioned a few moments ago that personalized medicine is the
wave of the future. This is where it is going, and we now
have some treatments, including PARP inhibitors, that look
promising for cancers and people who carry a BRCA1 or BRCA2
mutation, these are treatments that are specially geared toward
those types of cancers and we certainly have a long way to go in
clinical trials to prove this, but it is our first promising BRCA
related break through.

Barber
This has been in the news a little bit, the decision to not allow
patents on genes, explain that to me.

Matloff
Let me give a little disclaimer here, I am a plaintiff in this
lawsuit.

Matloff
Yes, I am. Although it is important for me to mention that I
represent myself in the lawsuit, and I am not a representative of
Yale University, Yale Cancer Center, or Yale School of
Medicine. I represent myself and in this lawsuit the American
Civil Liberties Union, ACLU brought together a few clinicians like
myself who are outraged about the patents and what has happened in
the wake of the patents, but also some patient's and patient
organizations and some professional organizations, and sued this
company Myriad Genetics in Salt Lake City, Utah over patents. We
thought these patents should have never been issued and much to our
surprise, someone who reviewed the case, a judge who reviewed the
case, decided that these patents were unconstitutional. It
has been, as we expected, appealed and it will go to the next
level. A lot of people are saying that this will go to the
Supreme Court so we will have to wait and see what happens.

Barber
I would imagine that with science advancing so quickly you get
into a lot of these questions of ethics.

Matloff
I think so, and one of my biggest beefs with the patent is that the
genes could have never been found without hundreds and hundreds of
families donating their DNA and their family pedigree's to these
scientists saying please help us, and I do not think that they
thought a big company was going to come along and stick their flag
with a patent, into their genes and say we now own these, and
anyone who wants to do this testing has got to pay us thousands and
thousands of dollars more than the test cost, to get this test.

Barber
As this moves forward, and it is obvious to me at least that these
things are being figured out as we go, what are some of the
exciting things for you that are on the horizon that you can see,
not way out there, but that you can really see?

Matloff
One of the big ones has to do with the kind of targeted therapies
we have mentioned. Right now, if I learn that someone carries the
mutation, let's say in one of our colon cancer genes that we test
for, Lynch syndrome, one of my recommendations to women who are age
35 or older is this mutation, in addition to causing colon cancer,
causes ovarian and uterine cancer, so you need to have a total
hysterectomy. Have you ever tried to say that to a
35-year-old woman? That is a tough conversation to have, and one of
the things I am excited about is that I think within the next 5 to
10 years I may have something better to offer them.

Barber
That is terrific, and as we as close out, what would you say to
someone who has not reached the point where they may have been told
they need cancer genetic counseling, or they have not even had a
diagnosis, but may be aware of it in their family? What are
the types of things you can do to prepare yourself in case you have
that conversation at some point with a physician?

Matloff
I learned a lot from a patient I saw recently. She is 38
years old and she had known for a long time

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that there was breast cancer on her dad's side of the family, her
grandmother and aunt had it. And she is busy, she is married, she
has got little kids, and a job. It was scary for her.
She wanted to ignore it and she did ignore it until she was
diagnosed with an advanced breast cancer, and that is where she is
now, going through a bilateral mastectomy and chemotherapy.
She is sick. She has had to talk to her children about
this. There is a possibility that she could die and the thing
that she said to me was, "I was knew this was looming in the
background and I chose to keep my head stuck in the sand, and if
only I could back." So for the person listening who is thinking
this is scary, I do not want to open Pandora's Box, it is not as
scary as getting a diagnosis of cancer, prevention is the way to
go.

If you have questions or would like to share your comments,
visit yalecancercenter.org where you can also subscribe to our
podcast and find written transcripts of past programs. I am
Bruce Barber and you are listening to the WNPR Health Forum on the
Connecticut Public Broadcasting Network.